Linked Data
ClinVar Variation Id:
1034245
ClinVar RCV Id:
RCV001336916
dbSNP Id:
rs372661193
ExAC:
2:179449216 C / T
gnomAD v2:
2-179449216-C-T
gnomAD v4:
2-178584489-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584489C>T , CM000664.2:g.178584489C>T | GRCh38 |
| NC_000002.11:g.179449216C>T , CM000664.1:g.179449216C>T | GRCh37 |
| NC_000002.10:g.179157462C>T | NCBI36 |
| NG_011618.3:g.251314G>A , LRG_391:g.251314G>A | |
| NG_051363.1:g.66663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57358G>A (TTN) | ENSP00000343764.6:p.Gly19120Arg | |
| ENST00000342175.11:c.38443G>A (TTN) | ENSP00000340554.6:p.Gly12815Arg | |
| ENST00000359218.10:c.38242G>A (TTN) | ENSP00000352154.5:p.Gly12748Arg | |
| ENST00000342175.10:c.38443G>A (TTN) | ENSP00000340554.6:p.Gly12815Arg | |
| ENST00000342992.10:c.57358G>A (TTN) | ENSP00000343764.6:p.Gly19120Arg | |
| ENST00000359218.9:c.38242G>A (TTN) | ENSP00000352154.5:p.Gly12748Arg | |
| ENST00000460472.6:c.37867G>A (TTN) | ENSP00000434586.1:p.Gly12623Arg | |
| ENST00000589042.5:c.65062G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly21688Arg | |
| ENST00000591111.5:c.60139G>A (TTN) | ENSP00000465570.1:p.Gly20047Arg | |
| ENST00000615779.4:c.60139G>A (TTN) | ENSP00000483597.1:p.Gly20047Arg | |
| NM_001256850.1:c.60139G>A (TTN) | NP_001243779.1:p.Gly20047Arg | |
| NM_001267550.2:c.65062G>A (TTN) MANE Select | NP_001254479.2:p.Gly21688Arg | |
| NM_003319.4:c.37867G>A (TTN) | NP_003310.4:p.Gly12623Arg | |
| NM_133378.4:c.57358G>A (TTN) | NP_596869.4:p.Gly19120Arg | |
| NM_133432.3:c.38242G>A (TTN) | NP_597676.3:p.Gly12748Arg | |
| NM_133437.4:c.38443G>A (TTN) | NP_597681.4:p.Gly12815Arg | |
| NR_038271.1:n.596+13040C>T (TTN-AS1) | ||
| NR_038272.1:n.2768-84C>T (TTN-AS1) | ||
| XM_011511729.1:c.64159G>A (TTN) | XP_011510031.1:p.Gly21387Arg | |
| XM_011511730.1:c.38053G>A (TTN) | XP_011510032.1:p.Gly12685Arg | |
| XM_011511731.1:c.37912G>A (TTN) | XP_011510033.1:p.Gly12638Arg | |
| XM_017004819.1:c.63955G>A (TTN) | XP_016860308.1:p.Gly21319Arg | |
| XM_017004820.1:c.59353G>A (TTN) | XP_016860309.1:p.Gly19785Arg | |
| XM_017004821.1:c.59350G>A (TTN) | XP_016860310.1:p.Gly19784Arg | |
| XM_017004822.1:c.56392G>A (TTN) | XP_016860311.1:p.Gly18798Arg | |
| XM_017004823.1:c.38008G>A (TTN) | XP_016860312.1:p.Gly12670Arg | |
| XM_024453094.1:c.59503G>A (TTN) | XP_024308862.1:p.Gly19835Arg | |
| XM_024453095.1:c.59500G>A (TTN) | XP_024308863.1:p.Gly19834Arg | |
| XM_024453096.1:c.58933G>A (TTN) | XP_024308864.1:p.Gly19645Arg | |
| XM_024453097.1:c.56275G>A (TTN) | XP_024308865.1:p.Gly18759Arg | |
| XM_024453098.1:c.56194G>A (TTN) | XP_024308866.1:p.Gly18732Arg | |
| XM_024453099.1:c.37957G>A (TTN) | XP_024308867.1:p.Gly12653Arg | |
| XM_024453100.1:c.27811G>A (TTN) | XP_024308868.1:p.Gly9271Arg |